{"id":"W2557591007","doi":"10.1007/s10545-016-9991-4","title":"Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency","year":2016,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":319,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Rare Disease Foundation; Univerzita Karlova v Praze","keywords":"Cobalamin; Methylenetetrahydrofolate reductase; Medicine; Human genetics; Genetics; Biology; Internal medicine; Vitamin B12; Allele; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001251922,0.0004667532,0.001804344,0.0005858429,0.0001375724,0.0000509057,0.0003445497,0.0002386056,0.00004850922],"category_scores_gemma":[0.001283068,0.0002469109,0.0008734202,0.0008609637,0.0002912797,0.0001961369,0.0002018033,0.000371965,0.000003118114],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006112942,"about_ca_system_score_gemma":0.0004283623,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000114013,"about_ca_topic_score_gemma":0.000003321032,"domain_scores_codex":[0.9962283,0.0002719599,0.001856076,0.0003894002,0.0008545056,0.0003997638],"domain_scores_gemma":[0.9963914,0.0003081213,0.001335267,0.0005126864,0.0009708185,0.0004816948],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001904989,0.0003226298,0.001180792,0.01742451,0.001001478,0.00002723048,0.00003380284,8.757293e-7,0.00001182649,0.0004961247,0.002584815,0.9767254],"study_design_scores_gemma":[0.002557383,0.0002288855,0.01082529,0.02467429,0.007242651,0.0000641988,0.00007182501,0.00003230418,0.00000409262,0.000408084,0.953612,0.000279052],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00487591,0.9905657,0.00007824034,0.00155819,0.0003208563,0.002211667,0.0001724515,0.00001200651,0.0002050028],"genre_scores_gemma":[0.0005711764,0.9970899,0.0008557279,0.0001090637,0.0001858263,0.0001314161,0.0000248275,0.00007195174,0.0009600876],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9764464,"threshold_uncertainty_score":0.9999983,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09496233079956377,"score_gpt":0.4138215656559049,"score_spread":0.3188592348563411,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}